Canonical Allele Identifier: CA16041598
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371466
ClinVar RCV Id: RCV000409460
dbSNP Id: rs1057517294

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330951_23330955del , CM000675.2:g.23330951_23330955del GRCh38
NC_000013.10:g.23905090_23905094del , CM000675.1:g.23905090_23905094del GRCh37
NC_000013.9:g.22803090_22803094del NCBI36
NG_012342.1:g.107750_107754del

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.12923_12927del MANE Select ENSP00000371729.3:p.Lys4308SerfsTer21
ENST00000423156.2:c.2186-1469_2186-1465del ENSP00000390925.2:p.=
ENST00000455470.6:c.2432-1469_2432-1465del ENSP00000406565.2:p.=
ENST00000382292.7:c.12923_12927del ENSP00000371729.3:p.Lys4308SerfsTer21
ENST00000382298.7:c.12923_12927del ENSP00000371735.3:p.Lys4308SerfsTer21
ENST00000402364.1:c.10673_10677del ENSP00000385844.1:p.Lys3558SerfsTer21
ENST00000423156.1:n.1058-1469_1058-1465del ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-1469_2130-1465del
NM_001278055.1:c.12482_12486del NP_001264984.1:p.Lys4161SerfsTer21
NM_014363.5:c.12923_12927del NP_055178.3:p.Lys4308SerfsTer21
XM_005266338.1:c.12950_12954del XP_005266395.1:p.Lys4317SerfsTer21
XM_011535038.1:c.12974_12978del XP_011533340.1:p.Lys4325SerfsTer21
XM_011535039.1:c.12941_12945del XP_011533341.1:p.Lys4314SerfsTer21
XM_005266338.2:c.12950_12954del XP_005266395.1:p.Lys4317SerfsTer21
XM_011535039.2:c.12941_12945del XP_011533341.1:p.Lys4314SerfsTer21
XM_017020539.1:c.12914_12918del XP_016876028.1:p.Lys4305SerfsTer21
XM_024449337.1:c.12950_12954del XP_024305105.1:p.Lys4317SerfsTer21
NM_014363.6:c.12923_12927del MANE Select NP_055178.3:p.Lys4308SerfsTer21
NM_001278055.2:c.12482_12486del NP_001264984.1:p.Lys4161SerfsTer21